title: Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful.
abstract: Neuronal ceroid lipofuscinosis (NCL) is a rare disease with onset typically during childhood; however, that developing during adulthood can lead to early-onset dementia. We report a 54-year-old man whose onset coincided with speech impairment, amnesia and dyscalculia. On brain MRI, marked diffuse leukoencephalopathy with periventricular predominance was observed. On a skin biopsy, characteristic fingerprint images were noted, and the patient was diagnosed with NCL. The differential diagnosis of cognitive impairment with leukoencephalopathy is wide ranging; however, when marked symmetrical periventricular-predominant leukoencephalopathy is prevalent and no peripheral neuropathy or gait disorders are evident, a diagnosis of NCL should be suspected and a skin biopsy should be performed.
authors.affiliation: Rakuwakai Marutamachi Hospital, Emergency Medicine and General Internal Medicine, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Ueda
authors.forename: Eri
authors.initials: E
authors.lastname: Narushima
authors.forename: Eri
authors.initials: E
authors.lastname: Ishida
authors.forename: Ichiro
authors.initials: I
authors.lastname: Akiguchi
mesh_terms: D002552:Cerebral Ventricles / Q000473:pathology*; D003704:Dementia / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis*; D012867:Skin / Q000473:pathology*; D013997:Time Factors